American Academy of Pediatrics Offers Guidance on Identifying, Treating Genetically Based Leukodystrophies

The American Academy of Pediatrics has published a clinical report, “Leukodystrophies in Children: Diagnosis, Care, and Treatment,” to offer guidance on these genetically determined but treatable disorders that affect development. The AAP Section on Neurology and the Council on Genetics wrote the report, published in the September 2021 Pediatrics (published online Aug. 23). The AAP cites a growing number of clinical trials and genetic therapies that are becoming available for various leukodystrophies. Leukodystrophies are attributed to abnormalities of the brain and are seen in about 1 in 4,700 live births. They can present at any age, from infancy to adulthood; few can be cured but treatments are available. Common signs in children include developmental delay or encephalopathy. Older children and teens may exhibit behavioral or psychiatric changes, loss of formerly achieved milestones, or deterioration in skills, vision changes, or ataxia or gait changes. Treatment for some leukodystrophies is urgent, because the stage of disease may determine the efficacy of therapy. Many states now have newborn screening for some leukodystrophies, such as X-linked adrenoleukodystrophy. The AAP report will help guide policy management for newborn screening, approaches to diagnosis, timing and choice of treatment, and supportive therapies.

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The American Academy of Pediatrics is an organization of 67,000 primary care pediatricians, pediatric medical subspecialists and pediatric surgical specialists dedicated to the health, safety and well-being of infants, children, adolescents and young adults.